Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy
about
Structure of the polyisoprenyl-phosphate glycosyltransferase GtrB and insights into the mechanism of catalysisDiagnostic approach to the congenital muscular dystrophies.Genetic defects in dolichol metabolism.Fukutin is prerequisite to ameliorate muscular dystrophic phenotype by myofiber-selective LARGE expression.The challenge and promise of glycomics.A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.Solving glycosylation disorders: fundamental approaches reveal complicated pathways.Glycobiology of α-dystroglycan and muscular dystrophy.Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation.Matriglycan: a novel polysaccharide that links dystroglycan to the basement membrane.Prenatal muscle development in a mouse model for the secondary dystroglycanopathiesDisease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal α-dystroglycan O-mannosylation, independent from sialic acid.Recent advancements in understanding mammalian O-mannosylation.DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion.POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability.Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy.Evidence of early defects in Cajal-Retzius cell localization during brain development in a mouse model of dystroglycanopathy.A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans.Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy.TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.Third International Workshop for Glycosylation Defects in Muscular Dystrophies, 18-19 April 2013, Charlotte, USA
P2860
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P2860
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy
description
2013 nî lūn-bûn
@nan
2013 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Congenital disorder of glycosy ...... congenital muscular dystrophy
@ast
Congenital disorder of glycosy ...... congenital muscular dystrophy
@en
Congenital disorder of glycosy ...... congenital muscular dystrophy
@en-gb
Congenital disorder of glycosy ...... congenital muscular dystrophy
@nl
type
label
Congenital disorder of glycosy ...... congenital muscular dystrophy
@ast
Congenital disorder of glycosy ...... congenital muscular dystrophy
@en
Congenital disorder of glycosy ...... congenital muscular dystrophy
@en-gb
Congenital disorder of glycosy ...... congenital muscular dystrophy
@nl
prefLabel
Congenital disorder of glycosy ...... congenital muscular dystrophy
@ast
Congenital disorder of glycosy ...... congenital muscular dystrophy
@en
Congenital disorder of glycosy ...... congenital muscular dystrophy
@en-gb
Congenital disorder of glycosy ...... congenital muscular dystrophy
@nl
P2093
P2860
P50
P1476
Congenital disorder of glycosy ...... congenital muscular dystrophy
@en
P2093
Bobby G Ng
Charles J Waechter
Jeffrey Rush
Kimiyo M Raymond
Lakshmi Mehta
Tobias Willer
P2860
P304
P356
10.1016/J.YMGME.2013.06.016
P407
P577
2013-11-01T00:00:00Z